Canonical Allele Identifier: CA394563514

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786697T>G (hg19) ; chr16:g.3736696T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736696T>G , CM000678.2:g.3736696T>G	GRCh38
NC_000016.9:g.3786697T>G , CM000678.1:g.3786697T>G	GRCh37
NC_000016.8:g.3726698T>G	NCBI36
NG_009873.1:g.148425A>C
NG_009873.2:g.149018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4514A>C MANE Select	ENSP00000262367.5:p.Lys1505Thr
ENST00000262367.9:c.4514A>C	ENSP00000262367.5:p.Lys1505Thr
ENST00000382070.7:c.4400A>C	ENSP00000371502.3:p.Lys1467Thr
ENST00000570939.2:c.3149A>C	ENSP00000461002.2:p.Lys1050Thr
ENST00000571763.5:n.304A>C
ENST00000574740.1:n.335A>C
ENST00000576720.1:n.3337A>C
NM_001079846.1:c.4400A>C	NP_001073315.1:p.Lys1467Thr
NM_004380.2:c.4514A>C	NP_004371.2:p.Lys1505Thr
XM_005255124.3:c.4469A>C	XP_005255181.1:p.Lys1490Thr
XM_005255125.3:c.4097A>C	XP_005255182.1:p.Lys1366Thr
XM_006720848.2:c.4253A>C	XP_006720911.1:p.Lys1418Thr
XM_011522380.1:c.4460A>C	XP_011520682.1:p.Lys1487Thr
XM_011522381.1:c.3761A>C	XP_011520683.1:p.Lys1254Thr
XM_005255124.4:c.4469A>C	XP_005255181.1:p.Lys1490Thr
XM_005255125.4:c.4097A>C	XP_005255182.1:p.Lys1366Thr
XM_006720848.3:c.4253A>C	XP_006720911.1:p.Lys1418Thr
XM_011522381.2:c.3761A>C	XP_011520683.1:p.Lys1254Thr
XM_017022944.1:c.4508A>C	XP_016878433.1:p.Lys1503Thr
NM_004380.3:c.4514A>C MANE Select	NP_004371.2:p.Lys1505Thr